Educational status, testosterone replacement, and intelligence outcomes in Klinefelter syndrome

Author(s)

Luciane Simonetti ^[1] ; Magnus Regios Dias da Silva ^[2] ; Claudia Berlim de Mello ^[3]

Affiliation

^[1] Universidade Federal de São Paulo. Departamento de Medicina. Divisão de Endocrinologia - Brasil

^[2] Universidade Federal de São Paulo. Departamento de Medicina. Divisão de Endocrinologia - Brasil

^[3] Universidade Federal de São Paulo. Departamento de Psicobiologia - Brasil

• Document type: Journal article
• Source: Dement. Neuropsychol.; v. 16, n. 1, p. 97-104, 2022-04-11.

Abstract

ABSTRACT. Most male hypergonadotropic hypogonadism associated with infertility can be attributed to a single genetic condition such as Klinefelter syndrome (KS). This disease's wide phenotypic variability is frequently associated with mosaic 47,XXY lineages and testosterone replacement. Early diagnosis and treatment have been associated with better cognitive and intellectual outcomes, but the scope of this influence requires further investigation. Objective: This study aimed to investigate the intelligence profile of a cohort of patients with KS, considering the influence of educational level and clinical variables. Methods: Twenty-nine (9–65 years) individuals were submitted to the measures of intelligence quotient (IQ) (Wechsler's Scales) and adaptive behavior (Vineland-II). Linear regression analysis included the participants’ educational level and clinical variables (i.e., comorbidities and use of testosterone) as predictors and intellectual performance and adaptive behavior as outcomes. Results: Scores varied from intellectual deficiency to average ranges (82.5+15.8). There were significant differences between adult's and children's IQ and between verbal and nonverbal indexes. The level of education predicted both IQ and adaptive behavior. Testosterone replacement therapy and absence of seizures predicted only adaptive behavior. Conclusions: The level of education and hormonal therapy can be selectively implicated in the intellectual variability in KS. (AU)

• FAPESP's process: 14/06570-6 - Comprehensive whole exome, paired-end RNA and genome sequencing: new insights into genetic bases of thyroid carcinoma in pediatric and adult ages and applications in clinical practice
• Grantee: Janete Maria Cerutti
• Support Opportunities: Research Projects - Thematic Grants
• FAPESP's process: 18/03511-0 - EFFECTS OF FRUTOSE OVERLOAD DURING PREGNANCY ON THE KIDNEY FUNCTION OF THE OFFSPRING.
• Grantee: Guiomar Nascimento Gomes
• Support Opportunities: Regular Research Grants